ClinVar Miner

List of variants studied for neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy by Molecular Laboratory of the Institute of Human Genetics, Galilee Medical Center

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_138572.3(TAF8):c.45+5G>A

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